Clinical Tuberculosis in 2 of 3 Siblings with Interleukin-12 Receptor 1 Deficiency
Open Access
- 15 July 2003
- journal article
- case report
- Published by Oxford University Press (OUP) in Clinical Infectious Diseases
- Vol. 37 (2) , 302-306
- https://doi.org/10.1086/375587
Abstract
We describe 3 siblings with interleukin-12 receptor β1 (IL-12Rβ1) deficiency, a known genetic etiology of clinical disease caused by infection with poorly virulent mycobacteria, such as mycobacteria found in bacille Calmette-Guérin (BCG) vaccines and environmental nontuberculous mycobacteria (NTM). One child had disseminated tuberculosis, the second had extraintestinal salmonellosis and pulmonary tuberculosis, and the third remained asymptomatic. IL-12Rβ1 deficiency should be considered as a diagnosis in patients with severe salmonellosis or tuberculosis, even if they do not have disease due to BCG or NTM.Keywords
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